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Microcephaly

Gene: COPB2

Amber List (moderate evidence)

COPB2 (coatomer protein complex subunit beta 2)
EnsemblGeneIds (GRCh38): ENSG00000184432
EnsemblGeneIds (GRCh37): ENSG00000184432
OMIM: 606990, Gene2Phenotype
COPB2 is in 6 panels

2 reviews

Rylee Peters (Victorian Clinical Genetics Services)

I don't know

PMID: 37734708 - This paper reports an unrelated individual with the same homozygous variant (NM_004766.3:c.760C>T, p.Arg254Cys) identified in 2xsiblings in PMID: 29036432 (the same two siblings are also described in PMID: 34450031).

The proband is an 8.5yo Iranian female born to consanguineous parents. This individual has symptoms consistent with autosomal recessive microcephaly 19 (MIM#617800) including, global developmental delay, intellectual disability, microcephaly, seizures, spasticity, strabismus, and failure to thrive symptoms; she is unable to stand, walk, or speak.
Created: 27 Dec 2023, 6:08 a.m. | Last Modified: 27 Dec 2023, 6:09 a.m.
Panel Version: 1.246

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 19, primary, autosomal recessive, MIM# 617800

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Loss-of-function variants in COPB2, a component of the COPI coatomer complex, in six individuals from five unrelated families. 4 are heterozygous and one family with two sibs with homozygous variant, previously reported.
All presenting with a clinical spectrum of osteoporosis or osteopaenia, many with recurrent fractures, and developmental delay of variable severity. Functional data.

Note one of the individuals with heterozygous variant had significant microcephaly in addition to the two sibs with bi-allelic variants.
Created: 13 Sep 2021, 7:55 a.m. | Last Modified: 13 Sep 2021, 7:55 a.m.
Panel Version: 1.45
Two sibs with homozygous missense variant in this gene, mice homozygous for this variant had normal brain size however. Mice compound het for null allele and missense variant had some brain features, suggesting the missense variant is hypomorphic.
Sources: Expert list
Created: 2 Apr 2021, 6:31 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microcephaly 19, primary, autosomal recessive, MIM# 617800

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Microcephaly 19, primary, autosomal recessive, MIM# 617800
OMIM
606990
Clinvar variants
Variants in COPB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COPB2 were set to 29036432

13 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb2 has been classified as Amber List (Moderate Evidence).

2 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: copb2 has been classified as Red List (Low Evidence).

2 Apr 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COPB2 was added gene: COPB2 was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 29036432 Phenotypes for gene: COPB2 were set to Microcephaly 19, primary, autosomal recessive, MIM# 617800 Review for gene: COPB2 was set to GREEN